Variant report

Variant	esv3345652
Chromosome Location	chr7:128170041-128172564
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr7:128170954-128171294	K562	blood:	n/a	chr7:128171025-128171034 chr7:128171193-128171202
2	BACH1	chr7:128170628-128170836	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL11A	chr7:128172517-128172702	GM12878	blood:	n/a	chr7:128172675-128172684
4	BCL11A	chr7:128171434-128171723	GM12878	blood:	n/a	chr7:128171499-128171508
5	BCLAF1	chr7:128170974-128171325	GM12878	blood:	n/a	chr7:128171050-128171059 chr7:128171250-128171263 chr7:128171258-128171271 chr7:128171221-128171234 chr7:128171220-128171233 chr7:128171026-128171035
6	BHLHE40	chr7:128171081-128171307	HepG2	liver:	n/a	n/a
7	BHLHE40	chr7:128171068-128171268	K562	blood:	n/a	n/a
8	BHLHE40	chr7:128171119-128171252	GM12878	blood:	n/a	n/a
9	BRCA1	chr7:128171221-128171570	Hela-S3	cervix:	n/a	chr7:128171373-128171382
10	BRCA1	chr7:128171245-128171439	GM12878	blood:	n/a	chr7:128171373-128171382
11	BRCA1	chr7:128171403-128171433	HepG2	liver:	n/a	n/a
12	CBX3	chr7:128170946-128171580	K562	blood:	n/a	n/a
13	CCNT2	chr7:128170987-128171312	K562	blood:	n/a	n/a
14	CCNT2	chr7:128171512-128172123	K562	blood:	n/a	chr7:128171671-128171680
15	CEBPB	chr7:128172257-128172491	Hela-S3	cervix:	n/a	n/a
16	CEBPD	chr7:128171003-128171705	K562	blood:	n/a	n/a
17	CEBPD	chr7:128171003-128171461	HepG2	liver:	n/a	n/a
18	CEBPD	chr7:128171033-128171313	HepG2	liver:	n/a	n/a
19	CHD1	chr7:128171610-128171975	GM12878	blood:	n/a	n/a
20	CHD1	chr7:128171116-128171305	GM12878	blood:	n/a	n/a
21	CHD1	chr7:128170782-128171972	IMR90	lung:	n/a	chr7:128171373-128171382
22	CHD2	chr7:128172254-128172487	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr7:128170887-128171969	Hela-S3	cervix:	n/a	chr7:128171373-128171382
24	CHD2	chr7:128171068-128171784	HepG2	liver:	n/a	chr7:128171373-128171382
25	CHD2	chr7:128171162-128171625	H1-hESC	embryonic stem cell:	n/a	chr7:128171373-128171382
26	CHD2	chr7:128171022-128171802	K562	blood:	n/a	chr7:128171373-128171382
27	CHD2	chr7:128171061-128171675	GM12878	blood:	n/a	chr7:128171373-128171382
28	CHD2	chr7:128172301-128172445	K562	blood:	n/a	n/a
29	CREB1	chr7:128170951-128171328	A549	lung:	n/a	n/a
30	CTCF	chr7:128171580-128171730	GM12865	blood:	n/a	chr7:128171592-128171605
31	CTCF	chr7:128170733-128170929	K562	blood:	n/a	n/a
32	CTCF	chr7:128170708-128170791	GM19240	blood:	n/a	n/a
33	CTCF	chr7:128170700-128170824	GM19238	blood:	n/a	n/a
34	CTCF	chr7:128170794-128170840	GM10248	blood:	n/a	n/a
35	CTCF	chr7:128170706-128170831	GM19239	blood:	n/a	n/a
36	CTCF	chr7:128170711-128170823	GM12892	blood:	n/a	n/a
37	CTCF	chr7:128170039-128170086	MCF-7	breast:	n/a	chr7:128170056-128170072
38	CUX1	chr7:128171426-128171485	K562	blood:	n/a	n/a
39	E2F6	chr7:128170828-128171350	K562	blood:	n/a	chr7:128171191-128171200 chr7:128171246-128171255 chr7:128171029-128171039 chr7:128171050-128171060
40	E2F6	chr7:128170914-128171313	K562	blood:	n/a	chr7:128171191-128171200 chr7:128171246-128171255 chr7:128171029-128171039 chr7:128171050-128171060
41	E2F6	chr7:128170577-128170728	K562	blood:	n/a	chr7:128170606-128170615
42	E2F6	chr7:128170656-128171664	K562	blood:	n/a	chr7:128171191-128171200 chr7:128171246-128171255 chr7:128171609-128171618 chr7:128171029-128171039 chr7:128171621-128171631 chr7:128171050-128171060
43	E2F6	chr7:128172349-128172506	K562	blood:	n/a	n/a
44	E2F6	chr7:128171464-128171911	K562	blood:	n/a	chr7:128171842-128171852 chr7:128171845-128171855 chr7:128171609-128171618 chr7:128171621-128171631 chr7:128171677-128171686 chr7:128171839-128171849
45	EBF1	chr7:128170943-128171302	GM12878	blood:	n/a	n/a
46	EBF1	chr7:128170337-128170732	GM12878	blood:	n/a	chr7:128170645-128170654 chr7:128170644-128170655
47	EBF1	chr7:128170249-128170861	GM12878	blood:	n/a	chr7:128170645-128170654 chr7:128170644-128170655
48	EBF1	chr7:128170473-128170802	GM12878	blood:	n/a	chr7:128170645-128170654 chr7:128170644-128170655
49	EGR1	chr7:128170824-128171315	K562	blood:	n/a	chr7:128171026-128171039 chr7:128171246-128171256
50	EGR1	chr7:128171563-128171893	K562	blood:	n/a	chr7:128171677-128171687 chr7:128171667-128171677 chr7:128171871-128171884 chr7:128171672-128171685

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:128170611-128170661	GM12891	blood:	n/a
2	chr7:128170611-128170661	GM12891	blood:	n/a
3	chr7:128170611-128170661	GM12878	blood:	n/a
4	chr7:128170611-128170661	HPAEpiC	pulmonary alveolar:	n/a
5	chr7:128170611-128170661	MCF10A-Er-Src	breast:	n/a
6	chr7:128172447-128172497	RPTEC	kidney:	n/a
7	chr7:128170611-128170661	AoSMC	blood vessel:	n/a
8	chr7:128170611-128170661	K562	blood:	n/a
9	chr7:128172288-128172338	SKMC	muscle:	n/a
10	chr7:128172288-128172338	GM12878	blood:	n/a
11	chr7:128172288-128172338	BJ	skin:	n/a
12	chr7:128171378-128171428	AG04449	skin:	fetal
13	chr7:128172447-128172497	HEK293	kidney:	embryo
14	chr7:128170824-128170874	IMR90	lung:	fetal
15	chr7:128171378-128171428	Jurkat	blood:	n/a
16	chr7:128171378-128171428	BJ	skin:	n/a
17	chr7:128170824-128170874	SKMC	muscle:	n/a
18	chr7:128171939-128171989	SK-N-MC	brain:	n/a
19	chr7:128170824-128170874	AG09319	gingival:	n/a
20	chr7:128172447-128172497	GM06990	blood:	n/a
21	chr7:128170824-128170874	A549	lung:	n/a
22	chr7:128172447-128172497	AG09319	gingival:	n/a
23	chr7:128171378-128171428	SKMC	muscle:	n/a
24	chr7:128170824-128170874	ECC-1	luminal epithelium:	n/a
25	chr7:128170824-128170874	RPTEC	kidney:	n/a
26	chr7:128170611-128170661	BE2_C	brain:	n/a
27	chr7:128172288-128172338	U87	brain:	n/a
28	chr7:128171939-128171989	HMEC	breast:	n/a
29	chr7:128171378-128171428	PANC-1	pancreas:	n/a
30	chr7:128172447-128172497	AG09309	skin:	n/a
31	chr7:128170611-128170661	SK-N-SH_RA	brain:	n/a
32	chr7:128170824-128170874	GM12891	blood:	n/a
33	chr7:128170611-128170661	NHDF-neo	bronchial:	n/a
34	chr7:128170824-128170874	NT2-D1	testis:	n/a
35	chr7:128172447-128172497	AG10803	skin:	n/a
36	chr7:128172288-128172338	SK-N-SH	brain:	n/a
37	chr7:128172447-128172497	HPAEpiC	pulmonary alveolar:	n/a
38	chr7:128171378-128171428	NT2-D1	testis:	n/a
39	chr7:128172447-128172497	MCF-7	breast:	n/a
40	chr7:128170824-128170874	HRPEpiC	eye:	n/a
41	chr7:128172447-128172497	NT2-D1	testis:	n/a
42	chr7:128172288-128172338	NT2-D1	testis:	n/a
43	chr7:128172288-128172338	HIPEpiC	eye:	n/a
44	chr7:128171378-128171428	GM12891	blood:	n/a
45	chr7:128170611-128170661	BJ	skin:	n/a
46	chr7:128170611-128170661	HEK293	kidney:	embryo
47	chr7:128171378-128171428	HAEpiC	amniotic membrane:	n/a
48	chr7:128171378-128171428	LNCaP	prostate:	n/a
49	chr7:128170824-128170874	BJ	skin:	n/a
50	chr7:128172447-128172497	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:128171099..128172769-chr7:128337309..128338976,2	K562	blood:
2	chr7:128116092..128118343-chr7:128171049..128172892,4	K562	blood:
3	chr1:43423670..43424605-chr7:128170752..128171420,2	Hela-S3	cervix:
4	chr7:128116465..128119803-chr7:128169321..128173196,4	MCF-7	breast:
5	chr17:60555036..60556427-chr7:128170464..128171900,5	Hela-S3	cervix:
6	chr17:60555920..60556424-chr7:128170752..128171283,2	HCT-116	colon:
7	chr7:128044227..128046158-chr7:128169736..128172586,2	K562	blood:
8	chr17:60555428..60556734-chr7:128170618..128172295,7	MCF-7	breast:
9	chr17:60554358..60557025-chr7:128169837..128172731,3	MCF-7	breast:
10	chr17:7387516..7388176-chr7:128171392..128172005,2	Hela-S3	cervix:
11	chr7:128154968..128157377-chr7:128169188..128171020,2	K562	blood:
12	chr19:12903229..12903859-chr7:128170833..128171585,2	Hela-S3	cervix:
13	chr17:60555522..60557036-chr7:128169502..128171568,2	MCF-7	breast:
14	chr15:66796944..66797841-chr7:128170664..128171300,2	Hela-S3	cervix:
15	chr7:128094511..128096087-chr7:128168839..128171295,2	K562	blood:
16	chr7:128095000..128097525-chr7:128170265..128171989,2	MCF-7	breast:
17	chr7:128171075..128171582-chr9:128003090..128003828,2	Hela-S3	cervix:
18	chr14:55878199..55878800-chr7:128170749..128171703,2	NB4	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METTL2B-1	chr7:128169669-128170972	XLOC_006240

Variant related genes	Relation type
ENSG00000273270	TF binding region
ENSG00000242588	TF binding region
ENSG00000273270	CpG island
ENSG00000242588	CpG island
ENSG00000106348	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000135245	chromatin interactions
ENSG00000273184	chromatin interactions
ENSG00000117394	chromatin interactions
ENSG00000165055	chromatin interactions
ENSG00000174442	chromatin interactions
ENSG00000095066	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000146872	chromatin interactions
ENSG00000044574	chromatin interactions
ENSG00000240758	chromatin interactions
ENSG00000201041	chromatin interactions
ENSG00000174444	chromatin interactions
ENSG00000126775	chromatin interactions
ENSG00000252866	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2956675	chr7:128170058-128170059	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
2	rs3802002	chr7:128170089-128170090	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574018278	chr7:128170091-128170092	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
4	rs544410684	chr7:128170093-128170094	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
5	rs556129589	chr7:128170095-128170096	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
6	rs2956676	chr7:128170114-128170115	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
7	rs2956677	chr7:128170148-128170149	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
8	rs545375624	chr7:128170162-128170163	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
9	rs577769467	chr7:128170186-128170187	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
10	rs148315229	chr7:128170213-128170214	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
11	rs560206362	chr7:128170251-128170252	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
12	rs192305156	chr7:128170299-128170300	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
13	rs62483276	chr7:128170327-128170328	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs140494146	chr7:128170328-128170329	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
15	rs531930492	chr7:128170372-128170373	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
16	rs183461551	chr7:128170385-128170386	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
17	rs371564126	chr7:128170413-128170414	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs150442355	chr7:128170415-128170416	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
19	rs532757336	chr7:128170441-128170442	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
20	rs539299003	chr7:128170461-128170462	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
21	rs557375148	chr7:128170476-128170477	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
22	rs188515744	chr7:128170477-128170478	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
23	rs192743239	chr7:128170479-128170480	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
24	rs560841833	chr7:128170602-128170603	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
25	rs536631344	chr7:128170670-128170671	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
26	rs6966353	chr7:128170748-128170749	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
27	rs548642471	chr7:128170758-128170759	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
28	rs369509306	chr7:128170785-128170786	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
29	rs188427377	chr7:128170834-128170835	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
30	rs538090178	chr7:128170875-128170876	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
31	rs556429703	chr7:128170906-128170907	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
32	rs577728735	chr7:128170913-128170914	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
33	rs538845592	chr7:128170947-128170948	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
34	rs553561797	chr7:128170954-128170955	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
35	rs571852807	chr7:128170996-128170997	Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs542216239	chr7:128171067-128171068	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs113790722	chr7:128171094-128171095	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	mRNA abundance
38	rs191398424	chr7:128171102-128171103	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs376392372	chr7:128171128-128171129	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs10242420	chr7:128171136-128171137	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs185107921	chr7:128171189-128171190	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs548004932	chr7:128171206-128171207	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs559876967	chr7:128171246-128171247	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs7784642	chr7:128171271-128171272	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	mRNA abundance
45	rs372435126	chr7:128171273-128171274	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs79328924	chr7:128171280-128171281	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	mRNA abundance
47	rs570024273	chr7:128171304-128171305	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs559791105	chr7:128171346-128171347	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs201851697	chr7:128171354-128171355	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs71546780	chr7:128171419-128171420	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128163600-128170400	Weak transcription	Lung	lung
2	chr7:128163800-128170200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:128163800-128170200	Weak transcription	Fetal Thymus	thymus
4	chr7:128164000-128170200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:128164400-128170200	Weak transcription	Colonic Mucosa	Colon
6	chr7:128164400-128170200	Weak transcription	Fetal Intestine Large	intestine
7	chr7:128164400-128170200	Weak transcription	Fetal Intestine Small	intestine
8	chr7:128164400-128170200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:128164400-128170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:128166600-128170200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:128169200-128170200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:128169200-128173000	Active TSS	Stomach Smooth Muscle	stomach
13	chr7:128169600-128170200	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:128169600-128170200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr7:128169600-128170200	Enhancers	Fetal Muscle Leg	muscle
16	chr7:128169600-128170200	Enhancers	Placenta	Placenta
17	chr7:128169600-128174200	Active TSS	Fetal Brain Female	brain
18	chr7:128169800-128170200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:128169800-128170200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:128169800-128170200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:128169800-128170200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:128169800-128170200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:128169800-128170200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:128169800-128170200	Enhancers	Primary B cells from cord blood	blood
25	chr7:128169800-128170200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:128169800-128170200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr7:128169800-128170200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr7:128169800-128170200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr7:128169800-128170200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:128169800-128170200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr7:128169800-128170200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:128169800-128170200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:128169800-128170200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:128169800-128170200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:128169800-128170200	Enhancers	Brain Angular Gyrus	brain
36	chr7:128169800-128170200	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr7:128169800-128170200	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr7:128169800-128170200	Enhancers	Fetal Stomach	stomach
39	chr7:128169800-128170200	Enhancers	Left Ventricle	heart
40	chr7:128169800-128170200	Enhancers	Right Atrium	heart
41	chr7:128169800-128170200	Enhancers	Thymus	Thymus
42	chr7:128169800-128170200	Enhancers	HepG2	liver
43	chr7:128169800-128170200	Enhancers	HSMM	muscle
44	chr7:128169800-128170400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr7:128169800-128170400	Enhancers	Fetal Heart	heart
46	chr7:128169800-128170400	Enhancers	Pancreas	Pancrea
47	chr7:128169800-128170400	Flanking Active TSS	GM12878-XiMat	blood
48	chr7:128169800-128170600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr7:128169800-128170600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr7:128169800-128170600	Flanking Active TSS	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links